Emily: a patient story

EMILY’S SITUATION

Emily Kargel is a 12-year-old Girl Scout and thrill seeker.

“She’ll do anything for a rush,” Emily’s mom, Kristy Kargel, said.

Emily, who uses a wheelchair, participates in “Out of the Chair,” an acrobatic class that gives people in wheelchairs the opportunity to “fly” while attached to bungees. She also recently started bi-skiing, a form of downhill skiing that involves sitting in a chair on a single ski to maneuver down a hill or mountain.

If these activities alone don’t suggest it, Emily does not lead an ordinary life. Besides participating in high thrill activities most people shy away from, Emily has a rare genetic mutation only recently diagnosed after years of unanswered questions and failed treatments. The genetic mutation found on her SCN2A gene affects her heart and brain and has caused severe epilepsy and seizures since birth. It has affected her life “in every single way.”

Emily has seizures throughout each day and requires medication to keep them under control. After trying more than 24 different seizure medications, all with disappointing results, and some with debilitating side effects, Emily and her mom needed a new approach to Emily’s treatment.

"After trying so many medications that didn’t work, our neurologist ordered a OneOme RightMed test to understand how Emily processes drugs and how her medications would interact with each other."

THE ONEOME SOLUTION

“After trying so many medications that didn’t work, in January 2017 our neurologist suggested Emily try a new orphan drug (a drug developed specifically to treat rare medical conditions). But before she prescribed it, she ordered the OneOme RightMed® comprehensive test to help her understand how Emily processes drugs and how her different medications would interact with each other.”

The RightMed test is a pharmacogenomic test — sometimes called a medication response test. Pharmacogenomic testing, unlike other genetic testing, is done for the sole purpose of predicting response to medication to help doctors prescribe the right medication and dosage for patients. Depending on a patient’s genes, he or she may break down a drug too slowly or too quickly, which could result in potential side effects, or no effect at all. The SCN2A gene (where Emily has a genetic mutation that causes her epilepsy) is not included on OneOme RightMed test. Instead, the RightMed test looks at many other genes that have been shown to impact a person’s response to hundreds of medications.

The concept of the pharmacogenomic testing wasn’t new to Kristy. All too familiar with the varied effects drugs can have on different people, Kristy had been following the progression of testing that looks at a person’s DNA to predict drug response, hoping that someday it could benefit her daughter. At last a pharmacogenomic test was here.

Once the neurologist ordered the RightMed test, Emily completed a simple cheek swab and returned the kit to OneOme.

“It was super easy,” Kristy commented on the process of collecting the sample and returning it to OneOme.

Within days, Emily’s neurologist received a personalized and interactive report from OneOme, unlocking information that would now serve as a valuable resource in Emily’s healthcare.

“It was fascinating to get the report back. It confirmed for us why so many medications hadn’t worked for her. It was like ‘well, duh, here’s the reason why they didn’t work! Her body does not metabolize them at the normal rate.’”

“It confirmed for us why so many medications hadn’t worked for Emily. The test really takes a lot of guesswork out of prescribing medications. It is so valuable.”

THE ONEOME DIFFERENCE

Based on the RightMed test results, Emily’s doctor plans to start her on the new prescription at a dose tailored to how Emily processes medications. Plus, the test results have already come in handy in other, unexpected ways.

“Emily recently had a colonoscopy and endoscopy, so I provided the report to her anesthesiologist. Her anesthesiologist used the report to tweak Emily’s anesthesia medications and dosages, all based on Emily’s DNA and the information in the RightMed test report. I think it really helped in making the procedures more comfortable for Emily.”

YEARS OF PRESCRIPTION SUPPORT

Kristy plans to bring the RightMed test results to her pediatrician to have them added to Emily’s electronic medical records so the results can provide years of prescription and dosage support to Emily’s doctors. Kristy is eager about what the report could provide Emily in the future.

“We’ve seen medications on the report that Emily hasn’t tried yet but that she has the potential to try. I’m not sure if they will be effective in treating her seizures or not, but at least we have an idea of how her body will metabolize them.”

A MOTHER’S APPROVAL

When asked if Kristy would recommend the RightMed test to other families, she said, “Yes. I would totally recommend it, and especially for children with complex medical conditions. Clinical trials often guide recommendations on how physicians should prescribe medications. The problem is that so many clinical trials have only been conducted on adults, making it particularly difficult for doctors to know the right dosage to give children . . . The test really takes a lot of guesswork out of prescribing medications. It is so valuable.”

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DO NOT MAKE ANY CHANGES TO YOUR CURRENT MEDICATIONS OR DOSING WITHOUT CONSULTING YOUR HEALTHCARE PROVIDER.

The report does not cover all medications, such as some common over-the-counter medications.

These results are specific to you and should not be used to guide medication decisions for others.

These results do not answer all questions about drug side effects or drug allergies.

This report does not take into account your previous experience with medications, vitamins, and/or supplements, nor does it take into account other factors not included in this report such as food interactions, age, gender, race/ethnicity, health conditions (i.e., diet, illness or disease), environmental factors (i.e., smoking), and drug-to-drug interactions.

The RightMed test, as with all genomic testing, has limitations. Always discuss the test with your healthcare provider to see if it's right for you.

Make sure you understand the benefits and limits of any test before ordering.

As a matter of practice, OneOme will routinely update its pharmacogenomic database as new information becomes available to the scientific community. As a result of these updates, drug binning and annotations found on the patient’s RightMed pharmacogenomic test report are dependent on the date of generation and/or the database version used to generate that report.